檢索結果 - Konidari, Ioanna

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) 由 Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca

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Identification of Chromosome 7 Inversion Breakpoints in an Autistic Family Narrows Candidate Region for Autism Susceptibility 由 Cukier, Holly N., Skaar, David A., Rayner-Evans, Melissa Y., Konidari, Ioanna, Whitehead, Patrice L., Jaworski, James M., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

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Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families 由 Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan

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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families 由 Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan

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Novel variants identified in methyl-CpG-binding domain genes in autistic individuals 由 Cukier, Holly N., Rabionet, Raquel, Konidari, Ioanna, Rayner-Evans, Melissa Y., Baltos, Mary L., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

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A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism 由 Hussman, John P, Chung, Ren-Hua, Griswold, Anthony J, Jaworski, James M, Salyakina, Daria, Ma, Deqiong, Konidari, Ioanna, Whitehead, Patrice L, Vance, Jeffery M, Martin, Eden R, Cuccaro, Michael L, Gilbert, John R, Haines, Jonathan L, Pericak-Vance, Margaret A

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Evaluating mitochondrial DNA variation in autism spectrum disorders 由 HADJIXENOFONTOS, ATHENA, SCHMIDT, MICHAEL A., WHITEHEAD, PATRICE L., KONIDARI, IOANNA, HEDGES, DALE J., WRIGHT, HARRY H., ABRAMSON, RUTH K., MENON, RAMKUMAR, WILLIAMS, SCOTT M., CUCCARO, MICHAEL L., HAINES, JONATHAN L., GILBERT, JOHN R., PERICAK-VANCE, MARGARET A., MARTIN, EDEN R., MCCAULEY, JACOB L.

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Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease 由 Edwards, Todd L., Scott, William K., Almonte, Cherylyn, Burt, Amber, Powell, Eric H., Beecham, Gary W., Wang, Liyong, Züchner, Stephan, Konidari, Ioanna, Wang, Gaofeng, Singer, Carlos, Nahab, Fatta, Scott, Burton, Stajich, Jeffrey M., Pericak-Vance, Margaret, Haines, Jonathan, Vance, Jeffery M., Martin, Eden R.

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An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males 由 Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R

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Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk 由 Salyakina, Daria, Cukier, Holly N., Lee, Joycelyn M., Sacharow, Stephanie, Nations, Laura D., Ma, Deqiong, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

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Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants 由 Griswold, Anthony J., Dueker, Nicole D., Van Booven, Derek, Rantus, Joseph A., Jaworski, James M., Slifer, Susan H., Schmidt, Michael A., Hulme, William, Konidari, Ioanna, Whitehead, Patrice L., Cuccaro, Michael L., Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Hussman, John P., Pericak-Vance, Margaret A.

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Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities 由 Naj, Adam C., Beecham, Gary W., Martin, Eden R., Gallins, Paul J., Powell, Eric H., Konidari, Ioanna, Whitehead, Patrice L., Cai, Guiqing, Haroutunian, Vahram, Scott, William K., Vance, Jeffery M., Slifer, Michael A., Gwirtsman, Harry E., Gilbert, John R., Haines, Jonathan L., Buxbaum, Joseph D., Pericak-Vance, Margaret A.

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Linkage and association of successful aging to the 6q25 region in large Amish kindreds 由 Edwards, Digna R. Velez, Gilbert, John R., Hicks, James E., Myers, Jamie L., Jiang, Lan, Cummings, Anna C., Guo, Shengru, Gallins, Paul J., Konidari, Ioanna, Caywood, Laura, Reinhart-Mercer, Lori, Fuzzell, Denise, Knebusch, Claire, Laux, Renee, Jackson, Charles E., Pericak-Vance, Margaret A., Haines, Jonathan L., Scott, William K.

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Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene 由 Cummings, Anna C., Jiang, Lan, Velez Edwards, Digna R., McCauley, Jacob L., Laux, Renee, McFarland, Lynne L., Fuzzell, Denise, Knebusch, Clare, Caywood, Laura, Reinhart-Mercer, Lori, Nations, Laura, Gilbert, John R., Konidari, Ioanna, Tramontana, Michael, Cuccaro, Michael L., Scott, William K., Pericak-Vance, Margaret A., Haines, Jonathan L.

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Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa 由 Züchner, Stephan, Dallman, Julia, Wen, Rong, Beecham, Gary, Naj, Adam, Farooq, Amjad, Kohli, Martin A., Whitehead, Patrice L., Hulme, William, Konidari, Ioanna, Edwards, Yvonne J.K., Cai, Guiqing, Peter, Inga, Seo, David, Buxbaum, Joseph D., Haines, Jonathan L., Blanton, Susan, Young, Juan, Alfonso, Eduardo, Vance, Jeffery M., Lam, Byron L., Peričak-Vance, Margaret A.

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Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways 由 Griswold, Anthony J., Ma, Deqiong, Cukier, Holly N., Nations, Laura D., Schmidt, Mike A., Chung, Ren-Hua, Jaworski, James M., Salyakina, Daria, Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.

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Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders 由 Cukier, Holly N, Dueker, Nicole D, Slifer, Susan H, Lee, Joycelyn M, Whitehead, Patrice L, Lalanne, Eminisha, Leyva, Natalia, Konidari, Ioanna, Gentry, Ryan C, Hulme, William F, Booven, Derek Van, Mayo, Vera, Hofmann, Natalia K, Schmidt, Michael A, Martin, Eden R, Haines, Jonathan L, Cuccaro, Michael L, Gilbert, John R, Pericak-Vance, Margaret A

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A genome-wide association study of autism reveals a common novel risk locus at 5p14.1 由 Ma, DQ, Salyakina, Daria, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Andersen, Ashley N., Hoffman, Joshua D., Slifer, Susan H., Hedges, Dale J., Cukier, Holly N., McCauley, Jacob L., Beecham, Gary W., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Hussman, John P., Gilbert, John R., Cuccaro, Michael L., Haines, Jonathan L., Pericak-Vance., Margaret A.

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement 由 Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence CS, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement 由 Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence C S, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter

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